X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
Kolvenbach CM, Felger T, Schierbaum L, Thiffault I, Pastinen T, Szczepańska M, Zaniew M, Adamczyk P, Bayat A, Yilmaz Ö, Lindenberg TT, Thiele H, Hildebrandt F, Hinderhofer K, Moog U, Hilger AC, Sullivan B, Bartik L, Gnyś P, Grote P, Odermatt B, Reutter HM, Dworschak GC.
Kolvenbach CM, et al. Among authors: felger t.
J Med Genet. 2023 Jun;60(6):587-596. doi: 10.1136/jmg-2022-108738. Epub 2022 Nov 15.
J Med Genet. 2023.
PMID: 36379543
Free PMC article.